14659 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Differential gene expression in the colon mucosa of irritable bowel syndrome patients with diarrhea-predominant symptoms

  The aim of this study is to characterize the pathophysiology of the irritable bowel syndrome (IBS) on the functional level and in parallel on the gene expression level. For this purpose RNAseq of mucosal biopsies was performed. The data from the differential expression analysis will be further processed by Ingenuity Pathway Analysis (IPA) software to gather Information on activated or inhibited signaling pathways in the disease.

  Study EGAS50000000046

• Arcagen – thoracic malignancies

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files from rare thoracic malignancies (n=102)

  Study EGAS50000000123

• Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

  The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease.

  Study phs000538

• SLAMF7 Regulates Synovial Macrophages in Rheumatoid Arthritis

  The purpose of this study was to characterize the role of SLAMF7 on human macrophages. RNA-sequencing was performed on myeloid populations from blood of healthy controls or rheumatoid arthritis patients, or synovial fluid of rheumatoid arthritis patients, based on high or low expression of SLAMF7. Then, monocyte-derived macrophages from healthy controls were left untreated, or stimulated with anti-SLAMF7 or recombinant SLAMF7 protein, and transcriptional profile was defined after SLAMF7 engagement.

  Study phs002771

• Gene Expression of Small Cell Carcinoma of the Ovary-Hypercalcemic Type (SCCOHT)

  Small cell carcinoma of the ovary-hypercalcemic type (SCCOHT) is a rare and aggressive form of ovarian cancer afflicting young women at a median age of 24 years. SCCOHTs are characterized by loss of protein expression of SWI/SNF chromatin remodeling ATPases SMARCA4 and SMARCA2 through mutation and epigenetic silencing, respectively. This study aims to establish gene expression profiles of this cancer through RNA-Seq of fourteen pathologically confirmed cases of SCCOHT tumors.

  Study phs001528

• The Genomic Landscape of Juvenile Myelomonocytic Leukemia

  This study analyzed samples from 29 patients with juvenile myelomonocytic leukemia (JMML) using whole exome sequencing. Each patient had a paired germline tissue along with a diagnostic leukemia sample. Germline tissue types included buccal mucosa, cordblood, Epstein-Barr virus immortalized cell lines and fibroblasts from either skin or bone marrow. Leukemia samples were either blood or bone marrow. Seven of the 29 patients also had a relapsed leukemia sample available for exome analysis.

  Study phs000973

• The Genomic Landscape of Tuberous Sclerosis Complex (TSC)

  In this study, we characterized the genomic landscape of tuberous sclerosis complex (TSC), a rare genetic disease causing multisystem growth of benign tumors and other hamartomatous lesions. We analyzed 127 human tissues, including 111 TSC-associated samples and 16 non-TSC negative controls, using multiple genomic platforms including whole exome sequencing, targeted sequencing of known disease-causative loci (TSC1 and TSC2), mRNA sequencing, high-density SNP arrays, and DNA methylation arrays.

  Study phs001357

• Identification of Structural Variants Relevant to Autism by Pacific Biosciences HiFi Whole-Genome Sequencing

  The purpose of this research study was to perform long-read whole-genome sequencing on a family with autism. This family had no known genetic cause based on clinical array and whole-exome sequencing analysis. Utilizing PacBio HiFi long-read whole-genome sequencing, we identified a relevant missense variant in the KCNC2 gene. This variant was likely to be a germline mosaic in the paternal germline.

  Study phs002698

• ZRSR2 Mutant Myelodysplastic Syndromes

  Mutations in splicing factor genes are common in myelodysplastic syndromes but the reason for selection of these mutations remains incompletely understood. This study aimed to identify the effect of minor intron retention due to ZRSR2 mutations in myelodysplastic syndromes. Nine samples from patients with myelodysplastic syndromes bearing ZRSR2 mutations and ten samples from patients with myelodysplastic syndromes not bearing any splicing factor mutations were subjected to transcriptomic analysis for mis-splicing events after RNA-sequencing. 

  Study phs002212

• Improved T Cell Immunity Following Neoadjuvant Chemotherapy in Ovarian Cancer

  This study characterized the evolution of the peripheral immune cell function and composition across the course of standard of care platinum and taxane chemotherapy in ovarian cancer using bulk and single cell transcriptomic approaches. Serial blood samples were collected from ten patients with advanced high-grade serous ovarian cancer treated with chemotherapy. Single cell sequencing was performed on five patients' samples collected before the initiation of chemotherapy and after the third cycle of chemotherapy.

  Study phs002862